Canonical Allele Identifier: CA251868
Gene: LPL HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.19955874G>A
GRCh37 chr8:g.19813385G>A
Revel Score:
ENST00000311322 0.888
ENST00000538071 0.888
ENST00000535763 0.888
gnomAD v2:
8:19813385 G / A
gnomAD v3:
8:19955874 G / A
gnomAD v4:
chr8-19955874-G-A
Joint Max Group AF 0.00000878 (NFE)
Exomes Max Group AF 0.00000852 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.19955874G>A , CM000670.2:g.19955874G>A GRCh38
NC_000008.10:g.19813385G>A , CM000670.1:g.19813385G>A GRCh37
NC_000008.9:g.19857665G>A NCBI36
NG_008855.1:g.21804G>A
NG_008855.2:g.59158G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000650287.1:c.809G>A MANE Select ENSP00000497642.1:p.Arg270His
ENST00000311322.8:c.809G>A ENSP00000309757.6:p.Arg270His
NM_000237.2:c.809G>A NP_000228.1:p.Arg270His
NM_000237.3:c.809G>A MANE Select NP_000228.1:p.Arg270His
Search 100 bp 5'
Search 100 bp 3'